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Links from MedGen

Items: 59

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:31348141-31348146
GRCh38:
Chr14:30878935-30878940
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Dec 23, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:31346808
GRCh38:
Chr14:30877602
LOC100506071, COCHG103D, G38DAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr14:31348118
GRCh38:
Chr14:30878912
COCH, LOC100506071L114P, L179PAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Sep 30, 2020)
criteria provided, single submitter
4.
GRCh37:
Chr14:31348106
GRCh38:
Chr14:30878900
COCH, LOC100506071Q110R, Q175RAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Aug 1, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr14:31359811
GRCh38:
Chr14:30890605
COCHAutosomal dominant nonsyndromic hearing loss 9Likely benign
(Jan 12, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr14:31359622
GRCh38:
Chr14:30890416
COCHAutosomal dominant nonsyndromic hearing loss 9Likely benign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr14:31359565
GRCh38:
Chr14:30890359
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr14:31359429
GRCh38:
Chr14:30890223
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr14:31349926
GRCh38:
Chr14:30880720
COCH, LOC100506071not provided, Autosomal dominant nonsyndromic hearing loss 9Likely benign
(Mar 11, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr14:31348078
GRCh38:
Chr14:30878872
COCH, LOC100506071Y166N, Y101NAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr14:31348070
GRCh38:
Chr14:30878864
COCH, LOC100506071R98Q, R163QInborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 9
Uncertain significance
(Nov 27, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr14:31359374
GRCh38:
Chr14:30890168
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr14:31359355
GRCh38:
Chr14:30890149
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr14:31359339
GRCh38:
Chr14:30890133
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr14:31359336
GRCh38:
Chr14:30890130
COCHAutosomal dominant nonsyndromic hearing loss 9Likely benign
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr14:31359242
GRCh38:
Chr14:30890036
COCHAutosomal dominant nonsyndromic hearing loss 9Likely benign
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr14:31359234
GRCh38:
Chr14:30890028
COCHAutosomal dominant nonsyndromic hearing loss 9Likely benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr14:31348043
GRCh38:
Chr14:30878837
COCH, LOC100506071P154H, P89HAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr14:31346821
GRCh38:
Chr14:30877615
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr14:31346803
GRCh38:
Chr14:30877597
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr14:31344135
GRCh38:
Chr14:30874929
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr14:31355477
GRCh38:
Chr14:30886271
COCH, LOC100506071Y479F, Y544Fnot provided, Autosomal dominant nonsyndromic hearing loss 9Conflicting interpretations of pathogenicity
(Sep 19, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr14:31355156
GRCh38:
Chr14:30885950
COCH, LOC100506071I437T, I372TAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Nov 21, 2019)
no assertion criteria provided
24.
GRCh37:
Chr14:31355191
GRCh38:
Chr14:30885985
COCH, LOC100506071R384C, R449CAutosomal dominant nonsyndromic hearing loss 9Likely pathogenic
(Dec 18, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr14:31348049
GRCh38:
Chr14:30878843
COCH, LOC100506071R91Q, R156QAutosomal dominant nonsyndromic hearing loss 9, not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr14:31359609
GRCh38:
Chr14:30890403
COCHAutosomal dominant nonsyndromic hearing loss 9Likely benign
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr14:31359404
GRCh38:
Chr14:30890198
COCHAutosomal dominant nonsyndromic hearing loss 9Benign
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr14:31359272
GRCh38:
Chr14:30890066
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr14:31359055
GRCh38:
Chr14:30889849
COCHAutosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr14:31359036
GRCh38:
Chr14:30889830
COCHnot provided, Autosomal dominant nonsyndromic hearing loss 9Benign
(Dec 15, 2020)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr14:31359024
GRCh38:
Chr14:30889818
COCHnot provided, Hearing loss, autosomal recessive 110, Autosomal dominant nonsyndromic hearing loss 9
Benign
(Jul 22, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr14:31359007
GRCh38:
Chr14:30889801
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr14:31358812
GRCh38:
Chr14:30889606
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr14:31355245
GRCh38:
Chr14:30886039
COCH, LOC100506071I402V, I467Vnot provided, Autosomal dominant nonsyndromic hearing loss 9, not specified
Benign/Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr14:31355022
GRCh38:
Chr14:30885816
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr14:31354994
GRCh38:
Chr14:30885788
COCH, LOC100506071Autosomal dominant nonsyndromic hearing loss 9Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr14:31353750
GRCh38:
Chr14:30884544
COCH, LOC100506071not provided, Autosomal dominant nonsyndromic hearing loss 9Benign/Likely benign
(Mar 2, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr14:31355067
GRCh38:
Chr14:30885861
COCH, LOC100506071not specified, not provided, Autosomal dominant nonsyndromic hearing loss 9
Benign
(Oct 14, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr14:31349945
GRCh38:
Chr14:30880739
COCH, LOC100506071Nonsyndromic genetic hearing lossBenign
(Feb 25, 2019)
reviewed by expert panel
FDA Recognized Database
40.
GRCh37:
Chr14:31355200
GRCh38:
Chr14:30885994
COCH, LOC100506071L387F, L452FAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Feb 16, 2016)
no assertion criteria provided
41.
GRCh37:
Chr14:31355012
GRCh38:
Chr14:30885806
COCH, LOC100506071R324Q, R389Qnot provided, not specified, Autosomal dominant nonsyndromic hearing loss 9
Conflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr14:31355389
GRCh38:
Chr14:30886183
COCH, LOC100506071I450V, I515Vnot specified, not provided, Autosomal dominant nonsyndromic hearing loss 9
Conflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr14:31348684
GRCh38:
Chr14:30879478
COCH, LOC100506071Nonsyndromic genetic hearing lossBenign
(Mar 25, 2019)
reviewed by expert panel
FDA Recognized Database
44.
GRCh37:
Chr14:31354707
GRCh38:
Chr14:30885501
COCH, LOC100506071D281N, D346NNonsyndromic genetic hearing lossBenign
(Feb 25, 2019)
reviewed by expert panel
FDA Recognized Database
45.
GRCh37:
Chr14:31355527
GRCh38:
Chr14:30886321
COCH, LOC100506071not specified, Autosomal dominant nonsyndromic hearing loss 9, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr14:31355311
GRCh38:
Chr14:30886105
LOC100506071, COCHY424D, Y489Dnot provided, not specified, Autosomal dominant nonsyndromic hearing loss 9
Benign/Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr14:31355310
GRCh38:
Chr14:30886104
COCH, LOC100506071not provided, not specified, Autosomal dominant nonsyndromic hearing loss 9
Benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:31355096
GRCh38:
Chr14:30885890
COCH, LOC100506071T352S, T417SHearing loss, autosomal recessive 110, not specified, not provided,
Autosomal dominant nonsyndromic hearing loss 9
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr14:31346939
GRCh38:
Chr14:30877733
COCH, LOC100506071not provided, Autosomal dominant nonsyndromic hearing loss 9Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr14:31358897
GRCh38:
Chr14:30889691
COCH, LOC100506071E518G, E583Gnot specified, not provided, Autosomal dominant nonsyndromic hearing loss 9
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr14:31358879
GRCh38:
Chr14:30889673
LOC100506071, COCHM512T, M577TAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Apr 1, 2008)
no assertion criteria provided
52.
GRCh37:
Chr14:31358969
GRCh38:
Chr14:30889763
COCH, LOC100506071C542Y, C607YAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Apr 1, 2008)
no assertion criteria provided
53.
GRCh37:
Chr14:31358969
GRCh38:
Chr14:30889763
COCH, LOC100506071C542F, C607FRare genetic deafness, not providedPathogenic
(Dec 6, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr14:31348132
GRCh38:
Chr14:30878926
LOC100506071, COCHA119T, A184TNonsyndromic genetic hearing lossUncertain significance
(Jun 15, 2022)
reviewed by expert panel
FDA Recognized Database
55.
GRCh37:
Chr14:31348103
GRCh38:
Chr14:30878897
COCH, LOC100506071I109N, I174Nnot providedPathogenic
(Jun 1, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr14:31346846
GRCh38:
Chr14:30877640
COCH, LOC100506071P51S, P116SNonsyndromic genetic hearing lossPathogenic
(Sep 19, 2018)
reviewed by expert panel
FDA Recognized Database
57.
GRCh37:
Chr14:31348126
GRCh38:
Chr14:30878920
LOC100506071, COCHW117R, W182RAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Nov 1, 1998)
no assertion criteria provided
58.
GRCh37:
Chr14:31348040
GRCh38:
Chr14:30878834
COCH, LOC100506071G88E, G153EAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Nov 1, 1998)
no assertion criteria provided
59.
GRCh37:
Chr14:31346892
GRCh38:
Chr14:30877686
COCH, LOC100506071V66G, V131GAutosomal dominant nonsyndromic hearing loss 9Pathogenic
(Nov 1, 1998)
no assertion criteria provided
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